Past, present and future of genomics for kidney stone disease

Abstract

Purpose of review To summarize the latest findings and developments in genomics for kidney stone disease (KSD) that help to understand hereditary pathomechanisms, identify high risk stone formers, provide early treatment and prevent recurrent kidney stone formation. Recent findings Several gene loci associated to KSD have presently been discovered in large Genome-wide association studies. Monogenic causes are rare, but are thought to have higher penetrance, while polygenic causes are more frequent with less penetrance. Although there is a great effort identifying genetic causes of KSD, targeted therapies are scarce. Summary There have been great advancements in genetic research in identifying genetic variants associated with KSD. Identifying these variants and understanding the underlying pathophysiology will not only provide individual risk assessment but open the way for new treatment targets and preventive care strategies.

Understanding formation processes of calcareous nephrolithiasis in renal interstitium and tubule lumen

“…The formation of kidney stones is a complex, multi‐step and long‐term process influenced by physical, chemical and biological factors that transform stone‐forming salts from free ions into asymptomatic or symptomatic stones. 7 , 24 , 25 From a macroscopic perspective, stone formation is influenced by various factors such as genetic predisposition, 26 , 27 environmental and geographic conditions, 28 , 29 , 30 gender, 31 , 32 age 33 and individual differences, including dietary habits 8 , 34 and income levels. 35 , 36 On a microscopic level, the process of stone formation is mediated by factors like urine supersaturation with stone‐forming salts, 37 the duration of abnormal urine residence, urine pH values, 38 and the imbalance of stone inhibitors and promoters.…”

Böbrek Taş Lokalizasyonuna Göre Perkütan Nefrolitotomi Operasyonlarının Başarı Ve Komplikasyon Oranlarının Karşılaştırılması

“…Urolithiasis is a widespread disease with increasing prevalence, varies from 5 % to 20 % worldwide. The factors contributing to urinary stone formation are multi-factorial involving metabolic, genetic, anatomic, and environmental factors (1,2). Decision of the appropriate treatment strategy for kidney stone is based on stone size, density, localization, type, occlusion characteristics of stone, and kidney anatomy (3).…”